Knowing

[Guest guest]

Knowing

December

12, 2008

as a

newborn. Photo: Penny

s

For Down

syndrome, the wheels of genetic testing are turning ever faster. They should

not outpace the ethical and moral debates, writes Blakston.

LIKE most

Australians, I felt triumphant for the Horsham doctor Bernhard Moeller and his

family when, swayed by public outrage, the Federal Government made an

about-face and granted them permanent residency.

The family's

original application had been rejected on the grounds that their son,

13-year-old Lukas, who has Down syndrome, would cost the health system too

much.

In granting the

family residency, decency and fairness had prevailed. We could give ourselves a

little pat on the back, in our support for the family, for being guided by what

is good and true.

I wondered where

that same goodness and truth had gone this week after reading an article

entitled " More Down Testing Would 'Halve' Births (The Sunday Age,

December 7), in which experts believe that every pregnant woman in Australia,

regardless of age, should be offered screening for Down syndrome.

Currently,

screening is mainly offered to women over 35, who are perceived as having a

higher chance of such a pregnancy. Down syndrome, or Trisomy 21, because of the

extra 21st chromosome, is the most common genetic condition, present in one of

800 live births.

The tenor of the

story was that if all women were offered screening, then even more women found

to be carrying a baby with Down syndrome would have the opportunity to

terminate. And, in so doing, Down syndrome births " would be halved " .

I feel saddened

that, on one hand, we could see the unfairness and prejudice of the Moeller's

situation. On the other, we send a message through the push for uniform,

national screening that the life of a person with Down syndrome is,

essentially, not worth living.

I know it's on

this point that many people will disagree. It's all about informed choice and

the right of a woman to be given the opportunity to decide whether to proceed

with such a pregnancy, right?

Well, yes,

that's true, in a sense. And this is where I want to stay clear of difficult

territory. I can't say what's right or wrong for another woman. Or stand in

judgement. But I can say that whatever " choice " a woman makes, either

way, is rarely simple or easy.

Studies bear out

the fact that many women who terminate a pregnancy for a particular reason

suffer depression in varying degrees as a result of their choice.

Equally, in the

case of the minority of women (about 3 per cent in ), who choose to

proceed with a pregnancy, knowing they are carrying a baby with Down syndrome,

it is rarely without profound levels of grief and soul searching.

I'm one of these

women. Now, having worked through some incredibly difficult emotions and

issues, I am the proud mother of a beautiful 16-month-old boy, .

Almost two years

ago, at 36 years old and 12 weeks' pregnant, still not even showing, I was

gently told by a sonographer that I had a one in four chance of carrying a baby

with Down syndrome.

For my husband

and I there was never really a choice about whether we would keep this child.

As hard as it was coming to terms with the news, I swayed between firmly

knowing and desperately hoping that there would be a place in our family for

this baby and that, as corny as it might sound, love would conquer all.

We decided to

find out definitively so that we could better prepare for the pregnancy, birth

and any immediate health issues the baby might have. An amniocentesis at 16

weeks confirmed what we already seemed to instinctively know.

I believe it's

only a matter of time before screening for all women becomes standard practice.

The wheels of genetic testing have been in motion for some time, and are set to

accelerate with the introduction in as little as two years of a blood test for

Down syndrome for a woman as early as six to eight weeks' pregnant.

One of my main

concerns is the " informed choice " that will become more readily

available to women will exist perfectly in theory but will be little more than

a subtly biased justification for termination.

For a choice to

be truly informed, it must provide the full picture, the negatives and

positives. While no medical professional ever openly questioned or disparaged

our decision, any positive information, particularly early on, was generally

conspicuously lacking.

This is the

common experience of other women I've since met who knew they were carrying

babies with Down syndrome.

It's easy to lay

blame with the medical profession. That's not my intention. While I do believe

it's the job of medical professionals working in prenatal diagnostics to be

properly informed on advances for people with Down syndrome and other genetic

conditions. I also feel that much of the diagnostic and scanning technology

(throughout all stages of pregnancy) is in such a nascent state that the

medical profession, and society in general, has not properly worked through the

ethical and moral dilemmas it throws up.

For instance, I

have been amazed at the number of seemingly well-meaning strangers who, when

they see my son has Down syndrome, will ask me straight out whether I

" knew " before he was born. And then proceed to tell me what they

would or wouldn't do in the same circumstance. In the past, I've been left hurt

and angry, feeling I somehow have to justify my child's existence.

Will uniform

national scanning serve to further marginalise people with Down syndrome and

their families, particularly those " who knew " ? We decried the

barbarity of institutionalising people with disabilities and fully dispensed

with that model only two decades ago. Is uniform scanning that different in its

intention: dispense with the " problem " , a so-called easy fix?

I often ponder

the irony that while prenatal scanning becomes more sophisticated and endemic,

there has never been a better time than the present for a baby with Down

syndrome to be born. There are the heart and other operations and medications

available to ensure a high quality of life. There is the realisation of the

crucial role of early intervention, with various physical and cognitive

therapies for children. It is no coincidence that many children with Down

syndrome are being integrated into and graduating from mainstream schools and

beyond.

This is a large

side to the story that is rarely told to expectant parents. My hope would be

that any policy developed for uniform scanning would aim to keep abreast of

advances in Down syndrome and clearly communicate these changes to expectant

parents.

The Moeller's

situation encouraged me to think that we can be an accepting and caring

society, that there is room for people with Down syndrome, including .

This was brought

home to me more so when my son underwent surgery for a heart condition almost

two months ago. The operation itself was a success but less than 24 hours later

arrested because of an aggressive reaction to a staph infection. We

nearly lost him. Through the days on life support, the trips back to theatre to

have his chest cleaned of the infection, and countless other complications, the

nurses and doctors, particularly his kind Russian surgeon, assured us they

would, as with any child, do whatever it takes to nurse back to health.

And they did.

These days my

biggest encouragement, however, is . And here's something all the

scanning and technology in the world couldn't tell me: just how much I would

love my boy for who he is, extra chromosome and all, and how truly wonderful he

is. That love, as corny as it sounds, can conquer all.

Blakston

is an Age journalist currently on maternity leave.

http://www.theage.com.au/national/knowing-gabriel-20081211-6wl8.html?page=-1